Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-43395437-G-C n.152G>C splice_region ABCC10 1 13468 7.42501E-5 6734 0 NA
6-43395439-T-C n.152+2T>C splice_donor ABCC10 1 13628 7.33783E-5 6814 0 NA
6-43395444-G-A n.152+7G>A splice_region ABCC10 1 14244 7.0205E-5 7122 0 NA
6-43395445-G-A n.152+8G>A splice_region ABCC10 1 14366 6.96088E-5 7183 0 NA
6-43395471-C-T c.-36C>T 5_prime_UTR_premature_start_codon_gain ABCC10 2 17940 1.11483E-4 8970 0 1.28337E-4
6-43395500-G-A c.-12+5G>A splice_region ABCC10 21 24350 8.62423E-4 12175 0 5.42853E-4
6-43395700-C-T c.-11-6C>T splice_region ABCC10 1 77182 1.29564E-5 38591 0 4.18477E-6
6-43395703-C-A c.-11-3C>A splice_region ABCC10 1 77204 1.29527E-5 38602 0 3.18695E-5
6-43395712-C-T n.112+7C>T splice_region ABCC10 1 77262 1.2943E-5 38631 0 1.25602E-5
6-43395717-A-G p.Met1? start_lost ABCC10 18 77312 2.32823E-4 38656 0 3.24281E-4
6-43395720-G-A p.Glu2Lys missense ABCC10 2 77344 2.58585E-5 38672 0 3.18552E-5
6-43395724-G-C p.Arg3Pro missense ABCC10 1 77322 1.29329E-5 38661 0 NA
6-43395732-G-A p.Ala6Thr missense ABCC10 2 77318 2.58672E-5 38659 0 NA
6-43395743-C-T p.Cys9Cys synonymous ABCC10 1 77302 1.29363E-5 38651 0 NA
6-43395757-CGTGGCCGCTCCCGCT-C p.Pro16_Trp20del conservative_inframe_deletion ABCC10 1 77214 1.2951E-5 38607 0 4.31652E-6
6-43395763-C-A p.Pro16Gln missense ABCC10 2 77202 2.59061E-5 38601 0 6.3743E-5
6-43395770-G-A p.Pro18Pro synonymous ABCC10 2 77168 2.59175E-5 38584 0 NA
6-43395779-G-A p.Glu21Glu synonymous ABCC10 3 77140 3.88903E-5 38570 0 1.36854E-5
6-43395781-G-A p.Gly22Glu missense ABCC10 2 77120 2.59336E-5 38560 0 1.75636E-5
6-43395787-C-T p.Thr24Ile missense ABCC10 5 77058 6.48862E-5 38529 0 9.56187E-6
6-43395788-C-A p.Thr24Thr synonymous ABCC10 1 77052 1.29782E-5 38526 0 3.18654E-5
6-43395795-C-CA p.His27fs frameshift ABCC10 1 77040 1.29803E-5 38520 0 2.2941E-5
6-43395798-T-G p.Cys28Gly missense ABCC10 1 77046 1.29793E-5 38523 0 NA
6-43395800-C-T p.Cys28Cys synonymous ABCC10 1 77038 1.29806E-5 38519 0 3.18573E-5
6-43395807-C-T p.Gln31* stop_gained ABCC10 2 77012 2.597E-5 38506 0 3.18573E-5
6-43395811-T-C p.Leu32Pro missense ABCC10 3 76996 3.89631E-5 38498 0 6.50153E-5
6-43395820-G-A p.Ser35Asn missense ABCC10 6 76934 7.79889E-5 38467 0 4.04073E-5
6-43395836-G-C p.Ala40Ala synonymous ABCC10 1 76850 1.30124E-5 38425 0 NA
6-43395837-C-T p.Leu41Phe missense ABCC10 2 76862 2.60207E-5 38431 0 6.55944E-6
6-43395839-C-G p.Leu41Leu synonymous ABCC10 2 76856 2.60227E-5 38428 0 NA
6-43395864-T-C p.Leu50Leu synonymous ABCC10 2 76810 2.60383E-5 38405 0 NA
6-43395867-G-A p.Gly51Ser missense ABCC10 8 76812 1.0415E-4 38406 0 0.0021322
6-43395868-G-A p.Gly51Asp missense ABCC10 1 76796 1.30215E-5 38398 0 NA
6-43395871-C-A p.Thr52Asn missense ABCC10 9 76786 1.17209E-4 38393 0 4.36885E-5
6-43395873-C-G p.Pro53Ala missense ABCC10 2 76768 2.60525E-5 38384 0 2.54907E-4
6-43395874-C-G p.Pro53Arg missense ABCC10 2 76762 2.60546E-5 38381 0 NA
6-43395875-G-A p.Pro53Pro splice_region+synonymous ABCC10 1 76786 1.30232E-5 38393 0 NA
6-43395877-GGT-G c.161+1_161+2delGT splice_donor ABCC10 3 76780 3.90727E-5 38390 0 NA
6-43395879-T-G c.161+2T>G splice_donor ABCC10 1 76750 1.30293E-5 38375 0 NA
6-43395880-G-T c.161+3G>T splice_region ABCC10 1 76768 1.30263E-5 38384 0 7.58024E-5
6-43395881-G-A c.161+4G>A splice_region ABCC10 1 76754 1.30286E-5 38377 0 NA
6-43398608-T-TCCAGATTACATCCTACCCTGCAGTCCTGGATG n.443+4_443+5insCCAGATTACATCCTACCCTGCAGTCCTGGATG splice_region ABCC10 1 16 0.0625 8 0 NA
6-43399584-T-G c.-264T>G 5_prime_UTR_premature_start_codon_gain ABCC10 1 30178 3.31367E-5 15089 0 NA
6-43399626-G-C c.-222G>C 5_prime_UTR_premature_start_codon_gain ABCC10 1 35022 2.85535E-5 17511 0 NA
6-43399704-G-T c.-144G>T 5_prime_UTR_premature_start_codon_gain ABCC10 1 55364 1.80623E-5 27682 0 NA
6-43399747-G-A c.-101G>A 5_prime_UTR_premature_start_codon_gain ABCC10 3 72220 4.15397E-5 36110 0 NA
6-43399760-A-G c.-88A>G 5_prime_UTR_premature_start_codon_gain ABCC10 2 75890 2.63539E-5 37945 0 NA
6-43399860-G-T p.Val5Phe missense ABCC10 2 83112 2.40639E-5 41556 0 NA
6-43399862-C-T p.Val5Val synonymous ABCC10 1 83124 1.20302E-5 41562 0 NA
6-43399875-C-T p.Pro10Ser missense ABCC10 1 83170 1.20236E-5 41585 0 5.58775E-5
6-43399880-G-C p.Arg54Ser missense+splice_region ABCC10 3 83184 3.60646E-5 41592 0 1.19589E-5
6-43399895-C-G p.Ile16Met missense ABCC10 1 83234 1.20143E-5 41617 0 NA
6-43399899-C-T p.Pro18Ser missense ABCC10 1 83234 1.20143E-5 41617 0 NA
6-43399914-T-C p.Trp23Arg missense ABCC10 2 83222 2.40321E-5 41611 0 3.18613E-5
6-43399917-C-T p.Arg24Cys missense ABCC10 4 83196 4.80792E-5 41598 0 6.37267E-5
6-43399918-G-A p.Arg24His missense ABCC10 1 83196 1.20198E-5 41598 0 6.25E-4
6-43399919-C-G p.Arg24Arg synonymous ABCC10 3 83196 3.60594E-5 41598 0 3.18512E-5
6-43399923-C-T p.Arg26* stop_gained ABCC10 1 83200 1.20192E-5 41600 0 6.37227E-5
6-43399924-G-A p.Arg26Gln missense ABCC10 1 83196 1.20198E-5 41598 0 2.47296E-5
6-43399928-T-C p.Leu27Leu synonymous ABCC10 3 83206 3.60551E-5 41603 0 9.55718E-5
6-43399943-G-A p.Leu32Leu synonymous ABCC10 2 83184 2.40431E-5 41592 0 3.97861E-6
6-43399950-G-A p.Val35Ile missense ABCC10 1 83142 1.20276E-5 41571 0 1.64804E-5
6-43399955-C-T p.Phe36Phe synonymous ABCC10 4 83110 4.8129E-5 41555 0 8.23954E-6
6-43399957-C-T p.Pro37Leu missense ABCC10 2 83094 2.40691E-5 41547 0 1.64796E-5
6-43399958-G-T p.Pro37Pro synonymous ABCC10 44 83084 5.29585E-4 41542 1 5.27322E-4
6-43399958-G-A p.Pro37Pro synonymous ABCC10 2 83082 2.40726E-5 41541 0 3.18512E-5
6-43399968-C-T p.Leu41Phe missense ABCC10 2 83046 2.4083E-5 41523 0 NA
6-43399987-C-T p.Pro47Leu missense ABCC10 2 82896 2.41266E-5 41448 0 4.94315E-5
6-43399995-G-T p.Ala50Ser missense ABCC10 2 82836 2.41441E-5 41418 0 NA
6-43399996-C-G p.Ala50Gly missense ABCC10 2 82844 2.41418E-5 41422 0 1.64766E-5
6-43399999-G-T p.Gly51Val missense ABCC10 2 82840 2.41429E-5 41420 0 NA
6-43400010-A-T p.Ile55Leu missense ABCC10 2 82930 2.41167E-5 41465 0 1.64772E-5
6-43400011-T-C p.Ile55Thr missense ABCC10 5 82914 6.03034E-5 41457 0 6.37471E-5
6-43400018-A-G p.Leu57Leu synonymous ABCC10 2 82934 2.41156E-5 41467 0 1.64777E-5
6-43400024-G-A p.Val59Val synonymous ABCC10 1 82942 1.20566E-5 41471 0 NA
6-43400036-C-T p.Cys63Cys synonymous ABCC10 4 82970 4.82102E-5 41485 0 1.3188E-4
6-43400037-G-A p.Val64Met missense ABCC10 4 82986 4.82009E-5 41493 0 1.59209E-5
6-43400041-C-A p.Ala65Glu missense ABCC10 3 82998 3.61454E-5 41499 0 NA
6-43400052-T-A p.Trp69Arg missense ABCC10 1 82962 1.20537E-5 41481 0 NA
6-43400058-A-G p.Ser71Gly missense ABCC10 2 82988 2.40999E-5 41494 0 NA
6-43400072-C-T p.Ala75Ala synonymous ABCC10 1 83138 1.20282E-5 41569 0 8.24348E-6
6-43400073-C-G p.Leu76Val missense ABCC10 13 83142 1.56359E-4 41571 0 0.00125
6-43400076-T-C p.Trp77Arg missense ABCC10 2 83168 2.40477E-5 41584 0 3.2975E-5
6-43400079-G-A p.Val78Met missense ABCC10 3 83170 3.60707E-5 41585 0 6.37674E-5
6-43400084-G-A p.Leu79Leu synonymous ABCC10 2 83166 2.40483E-5 41583 0 3.98248E-6
6-43400086-C-T p.Ala80Val missense ABCC10 64 83166 7.69545E-4 41583 0 0.00471758
6-43400105-C-T p.His86His synonymous ABCC10 2 83192 2.40408E-5 41596 0 6.37511E-5
6-43400113-G-C p.Gly89Ala missense ABCC10 3 83196 3.60594E-5 41598 0 NA
6-43400114-TC-T p.Leu91fs frameshift ABCC10 2 83184 2.40431E-5 41592 0 8.24742E-6
6-43400124-T-C p.Leu93Leu synonymous ABCC10 1 83178 1.20224E-5 41589 0 1.19885E-5
6-43400129-C-T p.Ala94Ala synonymous ABCC10 1 83170 1.20236E-5 41585 0 3.30022E-5
6-43400137-C-T p.Ala97Val missense ABCC10 1 83196 1.20198E-5 41598 0 8.0009E-6
6-43400148-G-A p.Ala101Thr missense ABCC10 2 83178 2.40448E-5 41589 0 NA
6-43400148-GC-TG p.Ala101Cys missense ABCC10 1 83178 1.20224E-5 41589 0 NA
6-43400161-T-C p.Val105Ala missense ABCC10 2 83156 2.40512E-5 41578 0 3.18573E-5
6-43400167-C-A p.Thr107Asn missense ABCC10 1 83124 1.20302E-5 41562 0 NA
6-43400169-G-A p.Val108Met missense ABCC10 2 83102 2.40668E-5 41551 0 6.37064E-5
6-43400171-G-A p.Val108Val synonymous ABCC10 1 83094 1.20346E-5 41547 0 NA
6-43400187-C-T p.Arg114* stop_gained ABCC10 5 82870 6.03355E-5 41435 0 9.55901E-5
6-43400199-C-T p.Leu118Leu synonymous ABCC10 1 82714 1.20899E-5 41357 0 5.03525E-4
6-43400199-C-A p.Leu118Met missense ABCC10 1 82714 1.20899E-5 41357 0 NA
6-43400202-C-A p.Pro119Thr missense ABCC10 5 82652 6.04946E-5 41326 0 1.59256E-4
6-43400204-C-T p.Pro119Pro synonymous ABCC10 15 82662 1.81462E-4 41331 0 6.25E-4
6-43400205-C-G p.Pro120Ala missense ABCC10 162 82668 0.00195965 41334 1 0.001875
6-43400206-C-G p.Pro120Arg missense ABCC10 1 82658 1.2098E-5 41329 0 NA
6-43400212-T-C p.Leu122Pro missense ABCC10 2 82500 2.42424E-5 41250 0 NA
6-43400222-C-T p.Pro125Pro synonymous ABCC10 1 82516 1.21189E-5 41258 0 NA
6-43400226-G-GC p.Arg128fs frameshift ABCC10 1 82408 1.21347E-5 41204 0 NA
6-43400230-G-A p.Arg128His missense ABCC10 161 82510 0.00195128 41255 1 0.00105549
6-43400234-A-G p.Leu129Leu synonymous ABCC10 2 82570 2.42219E-5 41285 0 8.81961E-5
6-43400241-C-G p.Leu132Val missense ABCC10 4 82542 4.84602E-5 41271 0 3.60727E-5
6-43400246-C-T p.Ile133Ile synonymous ABCC10 1 82548 1.21142E-5 41274 0 8.32875E-6
6-43400248-T-G p.Leu134Arg missense ABCC10 2 82534 2.42324E-5 41267 0 8.33417E-6
6-43400249-GC-G p.Gln135fs frameshift ABCC10 2 82492 2.42448E-5 41246 0 NA
6-43400249-G-A p.Leu134Leu synonymous ABCC10 2 82492 2.42448E-5 41246 0 8.33528E-6
6-43400249-G-T p.Leu134Leu synonymous ABCC10 1 82492 1.21224E-5 41246 0 NA
6-43400261-A-G p.Ala138Ala synonymous ABCC10 1 82512 1.21194E-5 41256 0 NA
6-43400279-G-A p.Leu144Leu synonymous ABCC10 1 82588 1.21083E-5 41294 0 8.35687E-6
6-43400286-G-A p.Ala147Thr missense ABCC10 3 82604 3.63179E-5 41302 0 8.35925E-6
6-43400305-G-A p.Arg153Gln missense ABCC10 3 82694 3.62783E-5 41347 0 3.18593E-5
6-43400325-C-G p.Pro160Ala missense ABCC10 1 82630 1.21021E-5 41315 0 NA
6-43400325-C-T p.Pro160Ser missense ABCC10 1 82630 1.21021E-5 41315 0 6.36902E-5
6-43400327-C-A p.Pro160Pro synonymous ABCC10 2 82646 2.41996E-5 41323 0 7.99891E-6
6-43400336-C-T p.Pro163Pro synonymous ABCC10 4 82588 4.84332E-5 41294 0 6.37227E-5
6-43400337-G-A p.Glu164Lys missense ABCC10 1 82588 1.21083E-5 41294 0 1.59983E-5
6-43400340-G-T p.Asp165Tyr missense ABCC10 1 82598 1.21068E-5 41299 0 1.67698E-5
6-43400342-T-G p.Asp165Glu missense ABCC10 2223 82568 0.0269233 41284 42 0.0367573
6-43400350-C-G p.Pro168Arg missense ABCC10 10 82536 1.21159E-4 41268 0 1.27397E-4
6-43400360-T-C p.Ala171Ala synonymous ABCC10 1 82394 1.21368E-5 41197 0 6.3743E-5
6-43400365-A-T p.Asp173Val missense ABCC10 3 82324 3.64414E-5 41162 0 1.08951E-4
6-43400369-G-A p.Gly174Gly synonymous ABCC10 1 82292 1.21518E-5 41146 0 8.37844E-6
6-43400372-G-A p.Glu175Glu synonymous ABCC10 1 82192 1.21666E-5 41096 0 8.37802E-6
6-43400383-C-T p.Ser179Leu missense ABCC10 1 82076 1.21838E-5 41038 0 3.99281E-6
6-43400385-C-G p.Arg180Gly missense ABCC10 1 82076 1.21838E-5 41038 0 NA
6-43400386-G-A p.Arg180His missense ABCC10 4 82052 4.87496E-5 41026 0 1.67583E-5
6-43400403-C-A p.Leu186Met missense ABCC10 1 81960 1.22011E-5 40980 0 8.37717E-6
6-43400406-G-A p.Ala187Thr missense ABCC10 23 81944 2.80679E-4 40972 0 1.31874E-4
6-43400406-G-C p.Ala187Pro missense ABCC10 18 81944 2.19662E-4 40972 0 1.35871E-4
6-43400409-C-G p.Pro188Ala missense ABCC10 1 82044 1.21886E-5 41022 0 3.18512E-5
6-43400422-G-A p.Arg192His missense ABCC10 12 82078 1.46202E-4 41039 0 0.00151057
6-43400430-T-C p.Cys195Arg missense ABCC10 1 82146 1.21734E-5 41073 0 9.56206E-5
6-43400431-G-C p.Cys195Ser missense ABCC10 2 82146 2.43469E-5 41073 0 3.99789E-6
6-43400431-G-A p.Cys195Tyr missense ABCC10 1 82146 1.21734E-5 41073 0 8.3783E-6
6-43400442-C-T p.Arg199Trp missense ABCC10 3 82230 3.6483E-5 41115 0 1.6742E-5
6-43400443-G-A p.Arg199Gln missense ABCC10 1 82262 1.21563E-5 41131 0 5.03525E-4
6-43400445-C-T p.Gln200* stop_gained ABCC10 1 82278 1.21539E-5 41139 0 3.99636E-6
6-43400448-C-T p.Pro201Ser missense ABCC10 1 82306 1.21498E-5 41153 0 5.84756E-5
6-43400449-C-T p.Pro201Leu missense ABCC10 1 82330 1.21462E-5 41165 0 6.25E-4
6-43400457-A-G p.Ile204Val missense ABCC10 1 82488 1.2123E-5 41244 0 3.99221E-6
6-43400463-C-T p.Arg206Cys missense ABCC10 3 82416 3.64007E-5 41208 0 3.9939E-6
6-43400464-G-A p.Arg206His missense ABCC10 1 82394 1.21368E-5 41197 0 2.50029E-5
6-43400466-C-T p.Leu207Phe missense ABCC10 1 82468 1.21259E-5 41234 0 3.99253E-6
6-43400469-C-G p.Pro208Ala missense ABCC10 1 82518 1.21186E-5 41259 0 7.98441E-6
6-43400472-C-A p.His209Asn missense ABCC10 1 82500 1.21212E-5 41250 0 3.99237E-6
6-43400472-C-T p.His209Tyr missense ABCC10 1 82500 1.21212E-5 41250 0 NA
6-43400493-C-T p.Leu216Leu synonymous ABCC10 1 82624 1.2103E-5 41312 0 2.39427E-5
6-43400494-T-C p.Leu216Pro missense ABCC10 4 82628 4.84097E-5 41314 0 3.18471E-5
6-43400500-G-A p.Arg218His missense ABCC10 396 82624 0.0047928 41312 1 0.00553877
6-43400500-G-C p.Arg218Pro missense ABCC10 1 82632 1.21018E-5 41316 0 1.66273E-5
6-43400502-G-T p.Val219Phe missense ABCC10 2 82678 2.41902E-5 41339 0 1.59567E-5
6-43400518-G-A p.Trp224* stop_gained ABCC10 2 82764 2.41651E-5 41382 0 NA
6-43400528-G-A p.Gly227Gly synonymous ABCC10 3 82766 3.62468E-5 41383 0 0.001875
6-43400532-C-T p.Arg229Trp missense ABCC10 7 82686 8.46576E-5 41343 0 6.25E-4
6-43400541-A-AGGGCCTT p.Tyr235fs frameshift ABCC10 2 82812 2.41511E-5 41406 0 3.19122E-5
6-43400542-G-A p.Arg232Lys missense ABCC10 1 82884 1.20651E-5 41442 0 8.28061E-6
6-43400572-A-G p.Tyr242Cys missense ABCC10 1 83094 1.20346E-5 41547 0 8.24987E-6
6-43400581-T-A p.Leu245His missense ABCC10 1 83154 1.20259E-5 41577 0 NA
6-43400587-T-G p.Leu247Arg missense ABCC10 1 83178 1.20224E-5 41589 0 NA
6-43400598-G-A p.Val251Met missense ABCC10 25 83178 3.0056E-4 41589 0 0.00100705
6-43400603-GA-TT p.GlyThr252GlySer missense ABCC10 2 83186 2.40425E-5 41593 0 NA
6-43400603-G-T p.Gly252Gly synonymous ABCC10 1 83186 1.20213E-5 41593 0 1.9888E-5
6-43400604-A-T p.Thr253Ser missense ABCC10 1 83170 1.20236E-5 41585 0 1.9888E-5
6-43400607-A-G p.Met254Val missense ABCC10 1 83202 1.20189E-5 41601 0 3.97785E-6
6-43400629-T-C p.Leu261Pro missense ABCC10 1 83160 1.2025E-5 41580 0 4.12249E-5
6-43400634-C-T p.Leu263Phe missense ABCC10 1 83138 1.20282E-5 41569 0 NA
6-43400634-C-G p.Leu263Val missense ABCC10 1 83138 1.20282E-5 41569 0 NA
6-43400636-C-G p.Leu263Leu synonymous ABCC10 47 83142 5.65298E-4 41571 1 9.89511E-4
6-43400640-C-A p.Leu265Ile missense ABCC10 1 83146 1.2027E-5 41573 0 NA
6-43400642-A-G p.Leu265Leu synonymous ABCC10 1 83136 1.20285E-5 41568 0 NA
6-43400642-A-T p.Leu265Leu synonymous ABCC10 2 83136 2.4057E-5 41568 0 NA
6-43400651-C-A p.Gly268Gly synonymous ABCC10 4 83094 4.81383E-5 41547 0 6.25E-4
6-43400657-G-A p.Leu270Leu synonymous ABCC10 3 83090 3.61054E-5 41545 0 NA
6-43400668-A-G p.Gln274Arg missense ABCC10 1 83082 1.20363E-5 41541 0 0.00453172
6-43400675-A-T p.Pro276Pro synonymous ABCC10 4 83096 4.81371E-5 41548 0 1.91217E-4
6-43400681-C-T p.Ser278Ser synonymous ABCC10 1 83078 1.20369E-5 41539 0 NA
6-43400684-C-T p.His279His synonymous ABCC10 2 83094 2.40691E-5 41547 0 1.27502E-4
6-43400685-G-A p.Gly280Ser missense ABCC10 43 83092 5.17499E-4 41546 0 9.56023E-4
6-43400687-C-A p.Gly280Gly synonymous ABCC10 1 83078 1.20369E-5 41539 0 8.2462E-6
6-43400691-C-T p.Leu282Phe missense ABCC10 56 83074 6.74098E-4 41537 0 0.00133877
6-43400695-A-G p.Tyr283Cys missense ABCC10 2 83056 2.40801E-5 41528 0 1.64897E-5
6-43400697-G-T p.Ala284Ser missense ABCC10 1 83048 1.20412E-5 41524 0 NA
6-43400700-CTG-C p.Leu285fs frameshift ABCC10 1 83040 1.20424E-5 41520 0 NA
6-43400702-G-A p.Leu285Leu synonymous ABCC10 1 83042 1.20421E-5 41521 0 NA
6-43400711-C-G p.Ala288Ala synonymous ABCC10 1 83032 1.20435E-5 41516 0 8.24416E-6
6-43400712-G-A p.Gly289Ser missense ABCC10 2 83040 2.40848E-5 41520 0 2.47329E-5
6-43400713-G-A p.Gly289Asp missense ABCC10 1 83060 1.20395E-5 41530 0 NA
6-43400733-G-T p.Val296Leu missense ABCC10 1 83038 1.20427E-5 41519 0 NA
6-43400743-A-G p.Asn299Ser missense ABCC10 16 83048 1.9266E-4 41524 0 2.23186E-4
6-43400750-T-A p.Tyr301* stop_gained ABCC10 1 83072 1.20378E-5 41536 0 NA
6-43400753-G-A p.Gly302Gly synonymous ABCC10 4 83082 4.81452E-5 41541 0 4.46343E-4
6-43400760-G-A p.Val305Ile missense ABCC10 3 83080 3.61098E-5 41540 0 1.47177E-4
6-43400763-T-C p.Tyr306His missense ABCC10 5 83100 6.01685E-5 41550 0 6.37633E-5
6-43400773-C-T p.Thr309Ile missense ABCC10 1 83110 1.20322E-5 41555 0 NA
6-43400781-G-T p.Ala312Ser missense ABCC10 1 83126 1.20299E-5 41563 0 NA
6-43400784-C-T p.Arg313Trp missense ABCC10 2 83124 2.40604E-5 41562 0 3.18735E-5
6-43400785-G-A p.Arg313Gln missense ABCC10 2 83128 2.40593E-5 41564 0 5.03525E-4
6-43400788-G-A p.Gly314Glu missense ABCC10 4 83128 4.81186E-5 41564 0 NA
6-43400790-G-A p.Ala315Thr missense ABCC10 1 83146 1.2027E-5 41573 0 5.76834E-5
6-43400799-A-C p.Asn318His missense ABCC10 1 83204 1.20187E-5 41602 0 NA
6-43400818-C-G p.Ala324Gly missense ABCC10 1 83254 1.20114E-5 41627 0 NA
6-43400823-C-T p.Gln326* stop_gained ABCC10 1 83248 1.20123E-5 41624 0 NA
6-43400838-C-T p.Arg331Cys missense ABCC10 2 83260 2.40211E-5 41630 0 1.64785E-5
6-43400839-G-A p.Arg331His missense ABCC10 12 83264 1.4412E-4 41632 0 1.27316E-4
6-43400841-C-T p.Pro332Ser missense ABCC10 12 83274 1.44103E-4 41637 0 2.55118E-4
6-43400850-G-A p.Gly335Arg missense ABCC10 31 83266 3.72301E-4 41633 0 2.9052E-4
6-43400853-G-A p.Glu336Lys missense ABCC10 1 83266 1.20097E-5 41633 0 NA
6-43400867-A-G p.Leu340Leu synonymous ABCC10 1 83266 1.20097E-5 41633 0 3.18898E-5
6-43400869-T-G p.Leu341Arg missense ABCC10 2 83272 2.40177E-5 41636 0 NA
6-43400874-A-C p.Thr343Pro missense ABCC10 1 83258 1.20109E-5 41629 0 NA
6-43400886-C-G p.Arg347Gly missense ABCC10 3 83250 3.6036E-5 41625 0 6.37511E-5
6-43400887-G-A p.Arg347Gln missense ABCC10 1 83256 1.20111E-5 41628 0 6.59207E-5
6-43400890-T-C p.Leu348Pro missense ABCC10 1 83250 1.2012E-5 41625 0 NA
6-43400897-C-T p.Asn350Asn synonymous ABCC10 2 83200 2.40385E-5 41600 0 NA
6-43400909-C-T p.Ser354Ser synonymous ABCC10 2 83166 2.40483E-5 41583 0 NA
6-43400914-A-C p.His356Pro missense ABCC10 1 83148 1.20267E-5 41574 0 3.97956E-6
6-43400914-A-G p.His356Arg missense ABCC10 1 83148 1.20267E-5 41574 0 NA
6-43400919-G-T p.Ala358Ser missense ABCC10 1 83128 1.20296E-5 41564 0 NA
6-43400933-C-G p.Pro362Pro synonymous ABCC10 1 83130 1.20294E-5 41565 0 NA
6-43400956-A-G p.Tyr370Cys missense ABCC10 1 82890 1.20642E-5 41445 0 3.9887E-6
6-43400966-C-G p.Tyr373* stop_gained ABCC10 2 82840 2.41429E-5 41420 0 NA
6-43400967-C-T p.Gln374* stop_gained ABCC10 3 82824 3.62214E-5 41412 0 1.65325E-5
6-43400974-T-C p.Val376Ala missense ABCC10 2 82946 2.41121E-5 41473 0 9.56084E-5
6-43400978-C-T p.Gly377Gly synonymous ABCC10 4 83006 4.81893E-5 41503 0 3.18695E-5
6-43400979-G-A p.Val378Met missense ABCC10 2 83012 2.40929E-5 41506 0 2.47431E-5
6-43400982-G-C p.Ala379Pro missense ABCC10 9 83022 1.08405E-4 41511 0 7.17698E-5
6-43400987-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain ABCC10 2 83040 2.40848E-5 41520 0 6.25E-4
6-43400988-G-A p.Val381Met missense ABCC10 3 83042 3.61263E-5 41521 0 7.97626E-6
6-43400999-C-T p.Leu384Leu synonymous ABCC10 5 83030 6.02192E-5 41515 0 0.00100705
6-43401006-G-C p.Ala387Pro missense ABCC10 5 82978 6.02569E-5 41489 0 7.98786E-6
6-43401017-G-A p.Leu390Leu synonymous ABCC10 3 82918 3.61803E-5 41459 0 1.65049E-5
6-43401020-A-G p.Val391Val synonymous ABCC10 1 82846 1.20706E-5 41423 0 NA
6-43401024-G-A p.Val393Ile missense ABCC10 6 82816 7.24498E-5 41408 0 0.00100705
6-43401027-A-G p.Asn394Asp missense ABCC10 239 82768 0.00288759 41384 0 0.00366405
6-43401028-A-G p.Asn394Ser missense ABCC10 2 82758 2.41668E-5 41379 0 4.00285E-6
6-43401045-C-T p.Arg400Cys missense ABCC10 5 82278 6.07696E-5 41139 0 8.02594E-6
6-43401046-G-A p.Arg400His missense ABCC10 1 82222 1.21622E-5 41111 0 6.25E-4
6-43401047-C-T p.Arg400Arg synonymous ABCC10 4 82232 4.86429E-5 41116 0 5.04032E-4
6-43401070-T-C p.Met408Thr missense ABCC10 2 80898 2.47225E-5 40449 0 8.34683E-6
6-43401071-G-A p.Met408Ile missense ABCC10 2 80708 2.47807E-5 40354 0 1.67029E-5
6-43401072-C-T p.Leu409Leu synonymous ABCC10 1 80534 1.24171E-5 40267 0 NA
6-43401073-T-G p.Leu409Arg missense ABCC10 2 80468 2.48546E-5 40234 0 8.36037E-6
6-43401088-C-T p.Ala414Val missense ABCC10 1 77556 1.28939E-5 38778 0 4.26178E-5
6-43401089-G-A p.Ala414Ala synonymous ABCC10 2 77080 2.59471E-5 38540 0 6.37064E-5
6-43401090-C-T p.Arg415Trp missense ABCC10 27 76684 3.52094E-4 38342 0 4.36367E-4
6-43401098-G-GCTT c.1251_1251+1insCTT splice_donor ABCC10 1 74196 1.34778E-5 37098 0 NA
6-43401099-G-T c.1251+1G>T splice_donor ABCC10 1 73796 1.35509E-5 36898 0 NA
6-43401105-G-A c.1251+7G>A splice_region ABCC10 23067 64180 0.359411 32090 3755 0.476411
6-43402386-C-T p.Arg427Trp missense ABCC10 1 82606 1.21057E-5 41303 0 8.29807E-6
6-43402403-C-T p.Cys432Cys synonymous ABCC10 1 82870 1.20671E-5 41435 0 3.18898E-5
6-43402404-G-A p.Gly433Arg missense ABCC10 2 82902 2.41249E-5 41451 0 6.37643E-5
6-43402413-C-T p.Gln436* stop_gained ABCC10 1 82994 1.20491E-5 41497 0 3.98153E-6
6-43402415-G-C p.Gln436His missense ABCC10 1 83026 1.20444E-5 41513 0 NA
6-43402428-C-T p.Arg441* stop_gained ABCC10 1 83050 1.20409E-5 41525 0 3.18674E-5
6-43402443-C-T p.Arg446Trp missense ABCC10 1 83190 1.20207E-5 41595 0 7.95482E-6
6-43402444-G-A p.Arg446Gln missense ABCC10 2 83208 2.40361E-5 41604 0 8.23832E-6
6-43402449-C-T p.Arg448* stop_gained ABCC10 1 83234 1.20143E-5 41617 0 1.19313E-5
6-43402450-G-A p.Arg448Gln missense ABCC10 29 83254 3.48332E-4 41627 0 1.27269E-4
6-43402455-C-T p.Leu450Leu synonymous ABCC10 1 83260 1.20106E-5 41630 0 NA
6-43402457-G-T p.Leu450Leu synonymous ABCC10 2 83272 2.40177E-5 41636 0 1.64742E-5
6-43402467-C-T p.Arg454Trp missense ABCC10 5 83292 6.00298E-5 41646 0 9.56267E-5
6-43402468-G-A p.Arg454Gln missense ABCC10 3 83298 3.60153E-5 41649 0 3.18735E-5
6-43402479-T-C p.Tyr458His missense ABCC10 2 83326 2.40021E-5 41663 0 1.64742E-5
6-43402490-G-A p.Ala461Ala synonymous ABCC10 51 83330 6.12025E-4 41665 0 0.00100705
6-43402495-G-C p.Cys463Ser missense ABCC10 1 83330 1.20005E-5 41665 0 NA
6-43402507-G-A p.Trp467* stop_gained ABCC10 1 83332 1.20002E-5 41666 0 NA
6-43402516-T-C p.Leu470Pro missense ABCC10 3 83338 3.5998E-5 41669 0 1.59053E-5
6-43402519-C-T p.Pro471Leu missense ABCC10 2 83340 2.39981E-5 41670 0 2.47109E-5
6-43402520-G-A p.Pro471Pro synonymous ABCC10 1 83342 1.19988E-5 41671 0 1.64739E-5
6-43402524-G-A p.Val473Ile missense ABCC10 4 83336 4.79985E-5 41668 0 1.03386E-4
6-43402535-C-T p.Ile476Ile synonymous ABCC10 11 83328 1.32008E-4 41664 0 5.03525E-4
6-43402536-G-A p.Val477Ile missense ABCC10 53 83330 6.36025E-4 41665 0 4.33441E-4
6-43402540-T-C p.Ile478Thr missense ABCC10 1 83338 1.19993E-5 41669 0 3.18634E-5
6-43402547-C-T p.Ile480Ile synonymous ABCC10 1 83324 1.20013E-5 41662 0 NA
6-43402548-A-T p.Thr481Ser missense ABCC10 2 83324 2.40027E-5 41662 0 3.19122E-5
6-43402561-T-C p.Met485Thr missense ABCC10 16 83276 1.92132E-4 41638 0 9.94241E-5
6-43402565-G-T p.Gly486Gly synonymous ABCC10 67 83278 8.04534E-4 41639 0 0.00151057
6-43402566-C-A p.His487Asn missense ABCC10 4 83282 4.80296E-5 41641 0 NA
6-43402571-G-A p.Gln488Gln synonymous ABCC10 1 83272 1.20088E-5 41636 0 NA
6-43402581-A-C p.Thr492Pro missense ABCC10 1 83240 1.20135E-5 41620 0 NA
6-43403488-G-A c.1480-1G>A splice_acceptor ABCC10 1 83212 1.20175E-5 41606 0 1.67232E-5
6-43403490-T-C p.Val494Ala missense+splice_region ABCC10 1 83216 1.20169E-5 41608 0 NA
6-43403496-C-T p.Thr496Met missense ABCC10 16 83256 1.92178E-4 41628 0 6.69131E-4
6-43403497-G-A p.Thr496Thr synonymous ABCC10 1 83264 1.201E-5 41632 0 1.66033E-5
6-43403501-C-G p.Leu498Val missense ABCC10 3 83292 3.60179E-5 41646 0 0.00111472
6-43403501-C-T p.Leu498Leu synonymous ABCC10 1 83292 1.2006E-5 41646 0 3.97829E-6
6-43403510-GTGCGAATGC-G p.Arg502_Leu504del disruptive_inframe_deletion ABCC10 9 83306 1.08035E-4 41653 0 3.18188E-5
6-43403513-C-T p.Arg502* stop_gained ABCC10 22 83308 2.6408E-4 41654 0 5.03525E-4
6-43403514-G-A p.Arg502Gln missense ABCC10 1 83314 1.20028E-5 41657 0 8.25409E-6
6-43403535-A-G p.Asn509Ser missense ABCC10 2 83348 2.39958E-5 41674 0 4.12038E-5
6-43403550-T-G p.Val514Gly missense ABCC10 1 83352 1.19973E-5 41676 0 NA
6-43403556-A-G p.Asn516Ser missense ABCC10 15 83364 1.79934E-4 41682 0 1.27478E-4
6-43403558-G-C p.Gly517Arg missense ABCC10 1 83364 1.19956E-5 41682 0 NA
6-43403564-C-A p.Leu519Met missense ABCC10 2 83358 2.39929E-5 41679 0 3.18492E-5
6-43403567-G-A p.Glu520Lys missense ABCC10 1 83358 1.19964E-5 41679 0 NA
6-43403579-T-A p.Ser524Thr missense ABCC10 1 83358 1.19964E-5 41679 0 NA
6-43403589-G-A p.Arg527Gln missense ABCC10 1 83362 1.19959E-5 41681 0 1.19297E-5
6-43403605-C-T p.Leu532Leu synonymous ABCC10 3 83348 3.59937E-5 41674 0 4.77194E-5
6-43403606-G-A p.Asp533Asn missense ABCC10 8 83352 9.59785E-5 41676 0 3.29554E-5
6-43403614-A-G p.Pro535Pro synonymous ABCC10 8 83348 9.59831E-5 41674 0 1.91083E-4
6-43403618-C-G p.His537Asp missense ABCC10 1 83348 1.19979E-5 41674 0 NA
6-43403635-C-T p.Tyr542Tyr synonymous ABCC10 2 83338 2.39987E-5 41669 0 9.55414E-5
6-43403832-T-C p.Asp546Asp splice_region+synonymous ABCC10 1 83386 1.19924E-5 41693 0 3.18776E-5
6-43403833-T-C p.Cys547Arg missense+splice_region ABCC10 2 83384 2.39854E-5 41692 0 NA
6-43403837-G-A p.Gly548Asp missense ABCC10 11 83378 1.31929E-4 41689 0 6.76638E-5
6-43403840-G-C p.Arg549Thr missense ABCC10 5 83386 5.99621E-5 41693 0 2.54712E-4
6-43403847-A-G p.Gly551Gly synonymous ABCC10 7 83378 8.3955E-5 41689 0 0.00100705
6-43403848-G-C p.Ala552Pro missense ABCC10 1 83384 1.19927E-5 41692 0 1.1936E-5
6-43403858-AG-A p.Lys555fs frameshift ABCC10 2 83388 2.39843E-5 41694 0 NA
6-43403873-C-A p.Ser560* stop_gained ABCC10 1 83384 1.19927E-5 41692 0 NA
6-43403890-C-T p.Pro566Ser missense ABCC10 3 83372 3.59833E-5 41686 0 9.55414E-5
6-43403893-T-A p.Ser567Thr missense ABCC10 1 83374 1.19941E-5 41687 0 NA
6-43403898-A-G p.Thr568Thr synonymous ABCC10 12 83362 1.4395E-4 41681 0 4.94185E-5
6-43403901-A-G p.Val569Val synonymous ABCC10 1 83366 1.19953E-5 41683 0 1.64728E-5
6-43403918-C-G p.Ala575Gly missense ABCC10 5 83348 5.99894E-5 41674 0 3.9763E-6
6-43403920-T-C p.Leu576Leu synonymous ABCC10 2 83350 2.39952E-5 41675 0 7.95267E-6
6-43403932-G-A p.Asp580Asn missense ABCC10 1 83340 1.1999E-5 41670 0 NA
6-43403957-C-T p.Thr588Ile missense ABCC10 2 83316 2.4005E-5 41658 0 NA
6-43403959-T-G p.Phe589Val missense ABCC10 1 83308 1.20036E-5 41654 0 5.03525E-4
6-43403973-C-T p.Leu593Leu synonymous ABCC10 1 83282 1.20074E-5 41641 0 0.00151057
6-43405664-C-T c.1792-8C>T splice_region ABCC10 1 82176 1.2169E-5 41088 0 NA
6-43405665-C-T c.1792-7C>T splice_region ABCC10 1289 82172 0.0156866 41086 58 0.0324245
6-43405670-A-G c.1792-2A>G splice_acceptor ABCC10 1 82248 1.21584E-5 41124 0 NA
6-43405681-G-C p.Val601Leu missense ABCC10 4 82388 4.85508E-5 41194 0 1.27389E-4
6-43405684-G-C p.Gly602Arg missense ABCC10 2 82406 2.42701E-5 41203 0 0.00125
6-43405685-G-A p.Gly602Asp missense ABCC10 1 82398 1.21362E-5 41199 0 0.00100806
6-43405689-C-T p.Ile603Ile synonymous ABCC10 2 82424 2.42648E-5 41212 0 9.55475E-5
6-43405692-G-C p.Val604Val synonymous ABCC10 3 82504 3.63619E-5 41252 0 3.89917E-5
6-43405701-C-T p.Val607Val synonymous ABCC10 10 82532 1.21165E-4 41266 0 0.0015121
6-43405702-G-A p.Gly608Ser missense ABCC10 2 82564 2.42236E-5 41282 0 4.02088E-6
6-43405734-C-A p.Ile618Ile synonymous ABCC10 2 82540 2.42307E-5 41270 0 1.01837E-5
6-43405734-C-T p.Ile618Ile synonymous ABCC10 2 82540 2.42307E-5 41270 0 8.09592E-6
6-43405735-G-A p.Ala619Thr missense ABCC10 2 82538 2.42313E-5 41269 0 1.02212E-5
6-43405750-A-G p.Arg624Gly missense+splice_region ABCC10 1 82518 1.21186E-5 41259 0 4.07747E-6
6-43405752-G-T c.1871+1G>T splice_donor ABCC10 1 82504 1.21206E-5 41252 0 NA
6-43405757-C-T c.1871+6C>T splice_region ABCC10 1 82500 1.21212E-5 41250 0 NA
6-43406366-C-T p.Arg626Cys missense ABCC10 119 83082 0.00143232 41541 0 0.0100806
6-43406367-G-A p.Arg626His missense ABCC10 1 83124 1.20302E-5 41562 0 1.65175E-5
6-43406371-G-A p.Gly627Gly synonymous ABCC10 28 83176 3.36636E-4 41588 0 2.22944E-4
6-43406374-T-A p.His628Gln missense ABCC10 1 83192 1.20204E-5 41596 0 3.98168E-6
6-43406385-G-C p.Arg632Pro missense ABCC10 1 83230 1.20149E-5 41615 0 8.24606E-6
6-43406394-C-G p.Ser635Cys missense ABCC10 1 83280 1.20077E-5 41640 0 3.97728E-6
6-43406400-G-C p.Gly637Ala missense ABCC10 1 83304 1.20042E-5 41652 0 3.97728E-6
6-43406407-C-T p.Gly639Gly synonymous ABCC10 2 83316 2.4005E-5 41658 0 7.95431E-6
6-43406424-C-T p.Pro645Leu missense ABCC10 2 83336 2.39992E-5 41668 0 3.97668E-6
6-43406436-T-C p.Phe649Ser missense ABCC10 1 83342 1.19988E-5 41671 0 8.23723E-6
6-43406472-C-T p.Thr661Ile missense ABCC10 2 83370 2.39894E-5 41685 0 NA
6-43406473-ATT-A p.Phe662fs frameshift ABCC10 1 83376 1.19939E-5 41688 0 8.23655E-6
6-43406475-T-C p.Phe662Ser missense ABCC10 25 83374 2.99854E-4 41687 0 3.78888E-4
6-43406493-A-T p.Lys668Met missense ABCC10 1 83344 1.19985E-5 41672 0 NA
6-43406501-C-T p.Leu671Leu synonymous ABCC10 3930 83272 0.0471947 41636 123 0.080625
6-43406512-C-T p.Cys674Cys synonymous ABCC10 4 83260 4.80423E-5 41630 0 2.05995E-4
6-43406513-G-A p.Ala675Thr missense ABCC10 1 83258 1.20109E-5 41629 0 4.12004E-5
6-43406515-C-G p.Ala675Ala synonymous ABCC10 1 83264 1.201E-5 41632 0 NA
6-43406516-C-T p.Leu676Phe missense ABCC10 1 83264 1.201E-5 41632 0 NA
6-43406522-G-T p.Asp678Tyr missense ABCC10 1 83216 1.20169E-5 41608 0 6.25E-4
6-43406534-G-T c.2043+1G>T splice_donor ABCC10 1 83074 1.20375E-5 41537 0 NA
6-43409612-G-A p.Gly686Arg missense ABCC10 1 82638 1.2101E-5 41319 0 3.99023E-6
6-43409615-G-C p.Asp687His missense ABCC10 2 82652 2.41978E-5 41326 0 NA
6-43409616-A-G p.Asp687Gly missense ABCC10 3 82644 3.63003E-5 41322 0 NA
6-43409618-C-A p.Gln688Lys missense ABCC10 2 82680 2.41896E-5 41340 0 3.18573E-5
6-43409622-C-T p.Thr689Ile missense ABCC10 1 82704 1.20913E-5 41352 0 NA
6-43409627-G-A p.Val691Met missense ABCC10 14 82716 1.69254E-4 41358 0 9.96119E-5
6-43409639-G-A p.Gly695Ser missense ABCC10 2 82782 2.41598E-5 41391 0 1.99152E-5
6-43409641-T-C p.Gly695Gly synonymous ABCC10 9 82770 1.08735E-4 41385 0 6.37471E-5
6-43409654-G-A p.Gly700Arg missense ABCC10 3 82822 3.62223E-5 41411 0 8.38097E-6
6-43409658-G-A p.Gly701Glu missense ABCC10 1 82818 1.20747E-5 41409 0 NA
6-43409663-C-T p.Arg703Cys missense ABCC10 1 82790 1.20788E-5 41395 0 1.67743E-5
6-43409663-C-G p.Arg703Gly missense ABCC10 1 82790 1.20788E-5 41395 0 NA
6-43409666-G-C p.Ala704Pro missense ABCC10 1 82784 1.20796E-5 41392 0 NA
6-43409666-G-A p.Ala704Thr missense ABCC10 1 82784 1.20796E-5 41392 0 NA
6-43409669-C-T p.Arg705Trp missense ABCC10 1 82792 1.20785E-5 41396 0 4.19893E-5
6-43409670-G-A p.Arg705Gln missense ABCC10 9 82786 1.08714E-4 41393 0 2.54842E-4
6-43409680-T-C p.Leu708Leu synonymous ABCC10 1 82720 1.2089E-5 41360 0 NA
6-43409682-C-G p.Ala709Gly missense ABCC10 1 82714 1.20899E-5 41357 0 6.37186E-5
6-43409685-G-C p.Arg710Pro missense ABCC10 1 82626 1.21027E-5 41313 0 3.18634E-5
6-43409697-A-G p.Gln714Arg missense+splice_region ABCC10 2 82470 2.42512E-5 41235 0 NA
6-43409703-G-C c.2142+5G>C splice_region ABCC10 6 82346 7.28633E-5 41173 0 3.18451E-5
6-43409797-A-G n.283A>G splice_region ABCC10 14 67374 2.07795E-4 33687 0 0.00105102
6-43410704-A-G c.2143-4A>G splice_region ABCC10 1 82636 1.21013E-5 41318 0 NA
6-43410716-G-A p.Glu717Glu synonymous ABCC10 15 82746 1.81278E-4 41373 0 0.00100705
6-43410718-T-C p.Leu718Pro missense ABCC10 2 82760 2.41663E-5 41380 0 1.24998E-4
6-43410728-C-T p.Leu721Leu synonymous ABCC10 2 82812 2.41511E-5 41406 0 2.65421E-5
6-43410736-C-T p.Pro724Leu missense ABCC10 1 82866 1.20677E-5 41433 0 5.03525E-4
6-43410741-G-A p.Ala726Thr missense ABCC10 1 82836 1.2072E-5 41418 0 4.08968E-6
6-43410743-C-T p.Ala726Ala synonymous ABCC10 1 82846 1.20706E-5 41423 0 6.36983E-5
6-43410744-G-A p.Ala727Thr missense ABCC10 1 82826 1.20735E-5 41413 0 3.44151E-5
6-43410747-G-A p.Val728Met missense ABCC10 1 82862 1.20683E-5 41431 0 NA
6-43410754-C-T p.Ala730Val missense ABCC10 1 82854 1.20694E-5 41427 0 NA
6-43410757-A-T p.Asp731Val missense ABCC10 2 82860 2.41371E-5 41430 0 NA
6-43410781-G-A p.Arg739Lys missense ABCC10 1 82782 1.20799E-5 41391 0 8.00211E-6
6-43410790-T-A p.Leu742Gln missense ABCC10 1 82664 1.20972E-5 41332 0 8.31518E-6
6-43410794-C-T p.Gly743Gly synonymous ABCC10 1 82648 1.20995E-5 41324 0 8.31449E-6
6-43410813-C-T p.Arg750Trp missense ABCC10 3 82440 3.63901E-5 41220 0 9.55718E-5
6-43410814-G-A p.Arg750Gln missense ABCC10 1 82438 1.21303E-5 41219 0 NA
6-43410816-C-T p.Leu751Leu synonymous ABCC10 2 82416 2.42671E-5 41208 0 NA
6-43410822-T-C p.Cys753Arg missense ABCC10 2 82400 2.42718E-5 41200 0 3.18492E-5
6-43410823-G-A p.Cys753Tyr missense ABCC10 1 82348 1.21436E-5 41174 0 NA
6-43410831-C-T p.Arg756Cys missense ABCC10 5 82280 6.07681E-5 41140 0 2.50539E-5
6-43410832-G-A p.Arg756His missense ABCC10 3 82226 3.64848E-5 41113 0 5.04541E-4
6-43410847-A-G p.Glu761Gly missense ABCC10 4 82202 4.86606E-5 41101 0 3.62608E-5
6-43410853-C-G p.Ala763Gly missense ABCC10 4 82126 4.87056E-5 41063 0 3.64426E-5
6-43410857-C-T p.Asp764Asp synonymous ABCC10 1 82022 1.21919E-5 41011 0 6.25E-4
6-43410858-G-A p.Ala765Thr missense ABCC10 3 81952 3.66068E-5 40976 0 3.18471E-5
6-43410859-C-T p.Ala765Val missense ABCC10 5 81916 6.10381E-5 40958 0 6.10312E-5
6-43410860-G-A p.Ala765Ala synonymous ABCC10 8 81882 9.77016E-5 40941 0 0.00151362
6-43410860-G-C p.Ala765Ala synonymous ABCC10 1 81882 1.22127E-5 40941 0 NA
6-43410878-C-T p.Ala771Ala synonymous ABCC10 5 81436 6.13979E-5 40718 0 3.18593E-5
6-43410879-G-A p.Gly772Arg missense ABCC10 1 81352 1.22923E-5 40676 0 9.55414E-5
6-43410882-C-T p.Arg773Cys missense ABCC10 2 81132 2.46512E-5 40566 0 2.11751E-5
6-43410883-G-A p.Arg773His missense ABCC10 1 81108 1.23292E-5 40554 0 6.37146E-5
6-43410884-C-T p.Arg773Arg synonymous ABCC10 28 81100 3.45253E-4 40550 0 8.91663E-4
6-43410891-C-T p.Arg776Trp missense ABCC10 13 80970 1.60553E-4 40485 0 6.25782E-4
6-43410892-G-A p.Arg776Gln missense ABCC10 4 80864 4.94658E-5 40432 0 9.55475E-5
6-43410903-G-A c.2332+6G>A splice_region ABCC10 1 80384 1.24403E-5 40192 0 NA
6-43411670-G-A c.2333-1G>A splice_acceptor ABCC10 1 83160 1.2025E-5 41580 0 3.97633E-6
6-43411688-C-T p.Leu784Leu synonymous ABCC10 7 83256 8.4078E-5 41628 0 6.25E-4
6-43411731-G-A p.Gly798Glu missense ABCC10 1 83206 1.20184E-5 41603 0 9.55353E-5
6-43411732-A-G p.Gly798Gly synonymous ABCC10 31 83210 3.72551E-4 41605 0 0.00130161
6-43411736-G-A p.Glu800Lys missense ABCC10 1 83204 1.20187E-5 41602 0 0.00151057
6-43411738-G-C p.Glu800Asp missense ABCC10 1 83184 1.20215E-5 41592 0 8.23886E-6
6-43411739-T-C p.Ser801Pro missense ABCC10 2 83176 2.40454E-5 41588 0 6.37755E-5
6-43411890-C-G c.2411-7C>G splice_region ABCC10 3 83236 3.60421E-5 41618 0 6.36821E-5
6-43411894-C-T c.2411-3C>T splice_region ABCC10 11 83264 1.3211E-4 41632 0 4.45831E-4
6-43411906-A-G p.Gln807Arg missense ABCC10 6 83284 7.20426E-5 41642 0 3.33728E-5
6-43411915-A-G p.Gln810Arg missense ABCC10 1 83282 1.20074E-5 41641 0 3.1841E-5
6-43411930-C-T p.Thr815Ile missense ABCC10 2 83254 2.40229E-5 41627 0 3.18552E-5
6-43411931-A-C p.Thr815Thr synonymous ABCC10 1 83256 1.20111E-5 41628 0 NA
6-43411933-A-C p.Lys816Thr missense ABCC10 1 83252 1.20117E-5 41626 0 NA
6-43411939-G-A p.Gly818Glu missense ABCC10 1 83258 1.20109E-5 41629 0 5.17838E-5
6-43411940-GC-AA p.GlyLeu818GlyMet missense ABCC10 1 83262 1.20103E-5 41631 0 NA
6-43411941-C-G p.Leu819Val missense ABCC10 1 83252 1.20117E-5 41626 0 3.18431E-5
6-43411948-A-G p.Glu821Gly missense ABCC10 1 83250 1.2012E-5 41625 0 2.48686E-5
6-43411959-A-C p.Thr825Pro missense ABCC10 1 83220 1.20163E-5 41610 0 3.18552E-5
6-43411959-A-G p.Thr825Ala missense ABCC10 1 83220 1.20163E-5 41610 0 NA
6-43411968-C-T p.Arg828Cys missense ABCC10 1 83186 1.20213E-5 41593 0 4.13928E-5
6-43411969-G-A p.Arg828His missense ABCC10 15 83178 1.80336E-4 41589 0 1.27421E-4
6-43411973-G-A p.Leu829Leu synonymous ABCC10 2 83192 2.40408E-5 41596 0 3.58275E-5
6-43411975-T-C p.Leu830Pro missense ABCC10 1 83182 1.20218E-5 41591 0 NA
6-43411992-A-G p.Lys836Glu missense ABCC10 192 83166 0.00230864 41583 0 0.00181097
6-43412000-C-T p.Gly838Gly synonymous ABCC10 4 83142 4.81105E-5 41571 0 4.13353E-5
6-43412001-G-A p.Ala839Thr missense ABCC10 1 83142 1.20276E-5 41571 0 2.47979E-5
6-43412002-C-T p.Ala839Val missense ABCC10 1 83140 1.20279E-5 41570 0 NA
6-43412003-C-T p.Ala839Ala synonymous ABCC10 16 83154 1.92414E-4 41577 0 3.2241E-4
6-43412004-G-A p.Val840Met missense ABCC10 1 83162 1.20247E-5 41581 0 1.19417E-5
6-43412016-G-A p.Val844Met missense ABCC10 1 83150 1.20265E-5 41575 0 2.48057E-5
6-43412024-A-G p.Gln846Gln synonymous ABCC10 1 83164 1.20244E-5 41582 0 3.98086E-6
6-43412038-C-T p.Ala851Val missense ABCC10 22 83102 2.64735E-4 41551 0 5.06198E-4
6-43412039-C-T p.Ala851Ala synonymous ABCC10 3 83072 3.61133E-5 41536 0 1.99306E-5
6-43412040-G-A p.Val852Met missense ABCC10 6 83080 7.22195E-5 41540 0 1.27429E-4
6-43412048-G-A p.Gln854Gln synonymous ABCC10 16 83058 1.92636E-4 41529 0 2.54777E-4
6-43412060-A-T p.Leu858Phe missense ABCC10 1 82994 1.20491E-5 41497 0 NA
6-43412066-C-T p.Ile860Ile synonymous ABCC10 1 82898 1.2063E-5 41449 0 NA
6-43412080-T-C p.Leu865Pro missense ABCC10 1 82636 1.21013E-5 41318 0 NA
6-43412082-C-T p.Leu866Phe missense ABCC10 273 82544 0.00330733 41272 3 0.00744938
6-43412084-C-T p.Leu866Leu synonymous ABCC10 1 82490 1.21227E-5 41245 0 NA
6-43412084-C-G p.Leu866Leu synonymous ABCC10 1 82490 1.21227E-5 41245 0 9.55231E-5
6-43412097-A-G c.2605+6A>G splice_region ABCC10 1 81956 1.22017E-5 40978 0 1.69372E-5
6-43412520-A-G c.2606-6A>G splice_region ABCC10 1 82226 1.21616E-5 41113 0 NA
6-43412529-C-T p.Thr870Met missense ABCC10 1 82510 1.21197E-5 41255 0 2.67805E-5
6-43412531-C-T p.Arg871Trp missense ABCC10 3 82546 3.63434E-5 41273 0 1.78158E-5
6-43412532-G-A p.Arg871Gln missense ABCC10 41 82582 4.96476E-4 41291 1 0.00125
6-43412532-G-T p.Arg871Leu missense ABCC10 2 82582 2.42184E-5 41291 0 8.87233E-6
6-43412533-G-C p.Arg871Arg synonymous ABCC10 1 82600 1.21065E-5 41300 0 8.86415E-6
6-43412537-G-A p.Ala873Thr missense ABCC10 1 82642 1.21004E-5 41321 0 3.52945E-5
6-43412547-G-T p.Trp876Leu missense ABCC10 1 82724 1.20884E-5 41362 0 3.18776E-5
6-43412554-C-G p.Leu878Leu synonymous ABCC10 1 82750 1.20846E-5 41375 0 NA
6-43412566-C-T p.Ile882Ile synonymous ABCC10 1 82798 1.20776E-5 41399 0 4.01236E-6
6-43412569-T-C p.Ser883Ser synonymous ABCC10 2 82800 2.41546E-5 41400 0 4.00753E-6
6-43412575-G-A p.Leu885Leu synonymous ABCC10 12 82818 1.44896E-4 41409 0 1.27478E-4
6-43412578-G-A p.Lys886Lys synonymous ABCC10 1 82826 1.20735E-5 41413 0 5.06107E-5
6-43412601-C-T p.Ala894Val missense ABCC10 2 82652 2.41978E-5 41326 0 3.18756E-5
6-43412602-G-A p.Ala894Ala synonymous ABCC10 1 82646 1.20998E-5 41323 0 0.00125313
6-43412606-C-T p.Pro896Ser missense ABCC10 2 82690 2.41867E-5 41345 0 NA
6-43412612-A-C p.Thr898Pro missense ABCC10 19 82712 2.29713E-4 41356 0 3.82409E-4
6-43412612-AC-A p.Ser899fs frameshift ABCC10 2 82712 2.41803E-5 41356 0 NA
6-43412615-A-G p.Ser899Gly missense ABCC10 1 82706 1.2091E-5 41353 0 NA
6-43412634-T-C p.Leu905Pro missense ABCC10 1 82672 1.2096E-5 41336 0 NA
6-43412635-C-T p.Leu905Leu synonymous ABCC10 14 82694 1.69299E-4 41347 0 1.76343E-4
6-43412640-C-T p.Ser907Phe missense ABCC10 1 82626 1.21027E-5 41313 0 3.18695E-5
6-43412643-C-T p.Pro908Leu missense ABCC10 2 82604 2.42119E-5 41302 0 2.5287E-5
6-43412644-G-A p.Pro908Pro synonymous ABCC10 1 82584 1.21089E-5 41292 0 1.59886E-5
6-43412660-T-C p.Ser914Pro missense ABCC10 1 82404 1.21353E-5 41202 0 NA
6-43412857-A-G c.2757-6A>G splice_region ABCC10 5 83138 6.0141E-5 41569 0 6.39795E-5
6-43412861-A-G c.2757-2A>G splice_acceptor ABCC10 1 83174 1.2023E-5 41587 0 3.29832E-5
6-43412865-T-C p.Ile920Thr missense+splice_region ABCC10 20585 82836 0.248503 41418 2673 0.243756
6-43412898-A-G p.Asn931Ser missense ABCC10 17 83264 2.0417E-4 41632 0 2.87595E-4
6-43412909-G-A p.Asp935Asn missense ABCC10 1 83252 1.20117E-5 41626 0 NA
6-43412914-C-A p.Ile936Ile synonymous ABCC10 7 83256 8.4078E-5 41628 0 7.15848E-5
6-43412915-C-T p.Arg937Cys missense ABCC10 1 83258 1.20109E-5 41629 0 6.37796E-5
6-43412916-G-A p.Arg937His missense ABCC10 23 83260 2.76243E-4 41630 0 1.4317E-4
6-43412925-T-A p.Leu940His missense ABCC10 1 83240 1.20135E-5 41620 0 NA
6-43412929-C-T p.Thr941Thr synonymous ABCC10 4 83228 4.80607E-5 41614 0 3.97678E-6
6-43412930-G-A p.Val942Met missense ABCC10 2 83222 2.40321E-5 41611 0 1.07375E-4
6-43412930-G-C p.Val942Leu missense ABCC10 1 83222 1.20161E-5 41611 0 NA
6-43412935-T-C p.Tyr943Tyr synonymous ABCC10 2287 83148 0.0275052 41574 184 0.0561081
6-43412938-G-A p.Ala944Ala synonymous ABCC10 7 83168 8.4167E-5 41584 0 5.96535E-5
6-43412942-A-G p.Ile946Val missense ABCC10 1 83148 1.20267E-5 41574 0 8.23845E-6
6-43412968-C-T p.Thr954Thr synonymous ABCC10 2 83026 2.40888E-5 41513 0 NA
6-43412970-TTC-ATA p.LeuLeu955HisIle missense ABCC10 1 82988 1.20499E-5 41494 0 NA
6-43412976-G-A p.Arg957Gln missense ABCC10 2 82870 2.41342E-5 41435 0 1.65101E-5
6-43412985-T-C p.Leu960Pro missense ABCC10 1 82670 1.20963E-5 41335 0 NA
6-43412993-G-T p.Ala963Ser missense ABCC10 4 82450 4.85143E-5 41225 0 3.98371E-6
6-43412993-G-C p.Ala963Pro missense ABCC10 1 82450 1.21286E-5 41225 0 3.98371E-6
6-43413001-C-G p.Thr965Thr synonymous ABCC10 1 82378 1.21392E-5 41189 0 NA
6-43413024-A-G p.His973Arg missense ABCC10 3 82348 3.64308E-5 41174 0 3.58929E-5
6-43413026-C-T p.Arg974Cys missense ABCC10 18 82270 2.18792E-4 41135 0 2.23186E-4
6-43413029-C-T p.Arg975Cys missense ABCC10 4 82186 4.86701E-5 41093 0 0.00125
6-43413030-G-A p.Arg975His missense ABCC10 2 82124 2.43534E-5 41062 0 8.9214E-6
6-43413042-G-A p.Arg979Gln missense ABCC10 2 81746 2.4466E-5 40873 0 NA
6-43413042-G-C p.Arg979Pro missense ABCC10 1 81746 1.2233E-5 40873 0 NA
6-43413045-T-A p.Val980Asp missense ABCC10 1 81684 1.22423E-5 40842 0 NA
6-43413050-A-T p.Met982Leu missense+splice_region ABCC10 1 81526 1.2266E-5 40763 0 3.9093E-5
6-43413059-G-A c.2946+7G>A splice_region ABCC10 1 81130 1.23259E-5 40565 0 NA
6-43413059-G-T c.2946+7G>T splice_region ABCC10 1 81130 1.23259E-5 40565 0 NA
6-43413342-A-G p.Pro984Pro synonymous ABCC10 3 80948 3.70608E-5 40474 0 8.07304E-5
6-43413359-C-G p.Ala990Gly missense ABCC10 1 81290 1.23016E-5 40645 0 5.03525E-4
6-43413368-C-T p.Thr993Met missense ABCC10 2 81476 2.45471E-5 40738 0 8.285E-4
6-43413373-C-T p.Arg995Trp missense ABCC10 2 81646 2.4496E-5 40823 0 2.50017E-5
6-43413374-G-A p.Arg995Gln missense ABCC10 14 81770 1.71212E-4 40885 0 1.16337E-4
6-43413378-C-T p.Ile996Ile synonymous ABCC10 1 81992 1.21963E-5 40996 0 2.00356E-5
6-43413385-C-T p.Arg999Cys missense ABCC10 1 82138 1.21746E-5 41069 0 2.48905E-5
6-43413386-G-A p.Arg999His missense ABCC10 2 82166 2.4341E-5 41083 0 9.56023E-5
6-43413392-C-T p.Ser1001Phe missense ABCC10 1 82362 1.21415E-5 41181 0 NA
6-43413402-G-A p.Val1004Val synonymous ABCC10 1 82424 1.21324E-5 41212 0 NA
6-43413410-C-A p.Ala1007Glu missense ABCC10 11 82422 1.3346E-4 41211 0 5.03525E-4
6-43413411-G-A p.Ala1007Ala synonymous ABCC10 5 82498 6.06075E-5 41249 0 3.18796E-5
6-43413433-C-T p.Leu1015Phe missense ABCC10 1 82826 1.20735E-5 41413 0 8.26433E-6
6-43413438-C-T p.Asn1016Asn synonymous ABCC10 1 82886 1.20648E-5 41443 0 NA
6-43413439-A-G p.Ile1017Val missense ABCC10 1 82900 1.20627E-5 41450 0 3.18578E-5
6-43413442-C-T p.Leu1018Phe missense ABCC10 79 82884 9.53139E-4 41442 0 0.00194255
6-43413444-C-G p.Leu1018Leu synonymous ABCC10 1 82904 1.20621E-5 41452 0 NA
6-43413448-G-C p.Ala1020Pro missense ABCC10 2 82902 2.41249E-5 41451 0 3.18512E-5
6-43413453-C-T p.Asn1021Asn synonymous ABCC10 7 82898 8.44411E-5 41449 0 9.55475E-5
6-43413454-G-A p.Ala1022Thr missense ABCC10 1 82858 1.20688E-5 41429 0 5.79825E-5
6-43413454-G-T p.Ala1022Ser missense ABCC10 4 82858 4.82754E-5 41429 0 1.99216E-5
6-43413455-C-T p.Ala1022Val missense ABCC10 1 82858 1.20688E-5 41429 0 1.65708E-5
6-43413456-G-A p.Ala1022Ala synonymous ABCC10 1 82862 1.20683E-5 41431 0 3.18512E-5
6-43413476-T-A p.Leu1029Gln missense ABCC10 3 82798 3.62328E-5 41399 0 2.79016E-5
6-43413480-C-T p.Ala1030Ala synonymous ABCC10 3 82766 3.62468E-5 41383 0 3.31956E-5
6-43413481-G-A p.Val1031Met missense ABCC10 5 82740 6.04303E-5 41370 0 0.00151057
6-43413513-C-T p.Leu1041Leu synonymous ABCC10 3 82832 3.62179E-5 41416 0 6.37105E-5
6-43413521-C-T p.Pro1044Leu missense ABCC10 6 82790 7.24725E-5 41395 0 7.56984E-5
6-43413522-G-A p.Pro1044Pro synonymous ABCC10 1 82788 1.2079E-5 41394 0 1.99254E-5
6-43413536-T-C p.Met1049Thr missense ABCC10 6 82818 7.2448E-5 41409 0 6.7707E-5
6-43413546-C-A p.His1052Gln missense ABCC10 2 82788 2.41581E-5 41394 0 3.18613E-5
6-43413546-C-T p.His1052His synonymous ABCC10 2 82788 2.41581E-5 41394 0 1.66489E-5
6-43413547-G-A p.Val1053Met missense ABCC10 5 82774 6.04054E-5 41387 0 1.1655E-4
6-43413550-C-T p.Gln1054* stop_gained ABCC10 1 82728 1.20878E-5 41364 0 1.19558E-5
6-43413553-C-T p.Arg1055Cys missense ABCC10 6 82724 7.25303E-5 41362 0 3.18492E-5
6-43413554-G-A p.Arg1055His missense ABCC10 3 82732 3.62617E-5 41366 0 1.66656E-5
6-43413555-C-T p.Arg1055Arg synonymous ABCC10 16 82736 1.93386E-4 41368 0 0.00302115
6-43413575-G-A p.Arg1062Gln missense ABCC10 5 82662 6.04873E-5 41331 0 1.0784E-4
6-43413576-G-C p.Arg1062Arg synonymous ABCC10 1 82646 1.20998E-5 41323 0 NA
6-43413583-C-T p.Arg1065Trp missense ABCC10 7 82490 8.48588E-5 41245 0 0.00100705
6-43413587-G-T p.Arg1066Leu missense ABCC10 2 82404 2.42707E-5 41202 0 8.41439E-6
6-43413588-C-T p.Arg1066Arg synonymous ABCC10 79 82456 9.58087E-4 41228 0 0.00194317
6-43413595-A-G p.Ser1069Gly missense ABCC10 6 82368 7.28438E-5 41184 0 1.91095E-4
6-43413604-C-G p.Leu1072Val missense ABCC10 3 82302 3.64511E-5 41151 0 8.0362E-6
6-43413605-T-C p.Leu1072Pro missense ABCC10 2 82290 2.43043E-5 41145 0 4.01797E-6
6-43413617-A-G p.Tyr1076Cys missense ABCC10 1 82100 1.21803E-5 41050 0 8.49387E-6
6-43413627-G-A p.Leu1079Leu synonymous ABCC10 1 81872 1.22142E-5 40936 0 8.5266E-6
6-43413630-C-G p.Ala1080Ala synonymous ABCC10 37 81764 4.52522E-4 40882 0 0.00251762
6-43413630-C-T p.Ala1080Ala synonymous ABCC10 4 81764 4.89213E-5 40882 0 6.83445E-5
6-43413631-G-A p.Asp1081Asn missense ABCC10 45 81760 5.50391E-4 40880 0 0.00124204
6-43413635-C-A p.Thr1082Asn missense ABCC10 1 81680 1.22429E-5 40840 0 NA
6-43413645-CCT-C p.Ser1087fs frameshift ABCC10 1 81606 1.2254E-5 40803 0 NA
6-43413651-T-C p.Ser1087Ser synonymous ABCC10 1 81548 1.22627E-5 40774 0 1.72129E-5
6-43413652-G-A p.Val1088Met missense ABCC10 251 81536 0.00307839 40768 1 0.00353616
6-43413658-C-T p.Arg1090Trp missense ABCC10 4 81484 4.90894E-5 40742 0 9.55475E-5
6-43413659-G-A p.Arg1090Gln missense ABCC10 7 81458 8.59339E-5 40729 0 2.6126E-5
6-43413668-G-A p.Gly1093Glu missense ABCC10 1 81482 1.22726E-5 40741 0 NA
6-43413669-G-A p.Gly1093Gly synonymous ABCC10 310 81424 0.00380723 40712 1 0.0070086
6-43413674-C-T p.Thr1095Ile missense ABCC10 2 81362 2.45815E-5 40681 0 8.77624E-6
6-43413683-G-T c.3290+3G>T splice_region ABCC10 1 81316 1.22977E-5 40658 0 4.11818E-6
6-43414034-C-T p.Arg1104* stop_gained ABCC10 2 83228 2.40304E-5 41614 0 3.58377E-5
6-43414035-G-C p.Arg1104Pro missense ABCC10 5 83238 6.00687E-5 41619 0 3.19203E-5
6-43414035-G-A p.Arg1104Gln missense ABCC10 62 83240 7.44834E-4 41620 0 0.00165986
6-43414037-C-T p.Leu1105Phe missense ABCC10 4 83250 4.8048E-5 41625 0 NA
6-43414053-A-G p.Gln1110Arg missense ABCC10 1 83266 1.20097E-5 41633 0 NA
6-43414056-G-A p.Arg1111Lys missense ABCC10 1 83262 1.20103E-5 41631 0 NA
6-43414062-A-G p.Gln1113Arg missense ABCC10 1 83264 1.201E-5 41632 0 1.19348E-5
6-43414063-G-T p.Gln1113His missense ABCC10 1 83266 1.20097E-5 41633 0 3.9782E-6
6-43414074-G-C p.Ser1117Thr missense ABCC10 1 83260 1.20106E-5 41630 0 NA
6-43414076-G-T p.Ala1118Ser missense ABCC10 1 83254 1.20114E-5 41627 0 NA
6-43414082-A-G p.Met1120Val missense ABCC10 2 83264 2.402E-5 41632 0 1.98907E-5
6-43414090-G-A p.Trp1122* stop_gained ABCC10 1 83238 1.20137E-5 41619 0 1.59459E-4
6-43414098-T-C p.Ile1125Thr missense ABCC10 1 83234 1.20143E-5 41617 0 3.19E-5
6-43414101-G-A p.Arg1126Gln missense ABCC10 14 83218 1.68233E-4 41609 0 9.57121E-5
6-43414111-C-T p.Leu1129Leu synonymous ABCC10 1 83180 1.20221E-5 41590 0 NA
6-43414113-T-C p.Met1130Thr missense ABCC10 2 83166 2.40483E-5 41583 0 2.78503E-5
6-43414119-C-T p.Ala1132Val missense ABCC10 4 83140 4.81116E-5 41570 0 1.64959E-5
6-43414120-G-A p.Ala1132Ala synonymous ABCC10 3 83136 3.60855E-5 41568 0 3.29908E-5
6-43414132-C-T p.Ser1136Ser synonymous ABCC10 1 83094 1.20346E-5 41547 0 3.19224E-5
6-43414133-G-A p.Ala1137Thr missense ABCC10 6 83094 7.22074E-5 41547 0 7.56406E-5
6-43414133-G-T p.Ala1137Ser missense ABCC10 1 83094 1.20346E-5 41547 0 7.96216E-6
6-43414136-A-C p.Ile1138Leu missense ABCC10 1 83094 1.20346E-5 41547 0 NA
6-43414136-A-G p.Ile1138Val missense ABCC10 1 83094 1.20346E-5 41547 0 0.001875
6-43414137-T-C p.Ile1138Thr missense ABCC10 1 83090 1.20351E-5 41545 0 NA
6-43414138-C-T p.Ile1138Ile synonymous ABCC10 6 83104 7.21987E-5 41552 0 2.23542E-4
6-43414139-G-A p.Ala1139Thr missense ABCC10 1 83068 1.20383E-5 41534 0 3.19407E-5
6-43414147-C-T p.Ile1141Ile synonymous ABCC10 147 83020 0.00177066 41510 0 0.00143047
6-43414148-G-A p.Ala1142Thr missense ABCC10 1 83002 1.20479E-5 41501 0 3.19611E-5
6-43414155-T-C p.Val1144Ala missense ABCC10 3 82936 3.61725E-5 41468 0 8.27157E-5
6-43414173-T-C p.Leu1150Pro missense ABCC10 1 82684 1.20942E-5 41342 0 7.47893E-5
6-43414174-C-T p.Leu1150Leu synonymous ABCC10 1 82644 1.21001E-5 41322 0 0.00125313
6-43414175-G-A p.Ala1151Thr missense ABCC10 4 82554 4.84531E-5 41277 0 8.02047E-6
6-43414181-C-T p.Pro1153Ser missense ABCC10 1 82428 1.21318E-5 41214 0 3.19632E-5
6-43414983-C-G c.3461-3C>G splice_region ABCC10 1 82434 1.21309E-5 41217 0 4.0233E-6
6-43414983-C-T c.3461-3C>T splice_region ABCC10 1 82434 1.21309E-5 41217 0 4.0233E-6
6-43414996-C-G p.Gly1157Gly synonymous ABCC10 1 82588 1.21083E-5 41294 0 NA
6-43415001-C-G p.Ser1159Trp missense ABCC10 1 82668 1.20966E-5 41334 0 3.18857E-5
6-43415001-C-T p.Ser1159Leu missense ABCC10 1 82668 1.20966E-5 41334 0 8.26638E-6
6-43415002-G-A p.Ser1159Ser synonymous ABCC10 11 82676 1.33049E-4 41338 0 3.50743E-4
6-43415002-G-T p.Ser1159Ser synonymous ABCC10 12 82678 1.45141E-4 41339 0 5.5288E-4
6-43415025-C-A p.Thr1167Lys missense ABCC10 1 82878 1.20659E-5 41439 0 3.98753E-6
6-43415025-C-T p.Thr1167Met missense ABCC10 1 82878 1.20659E-5 41439 0 3.18817E-5
6-43415032-G-A p.Leu1169Leu synonymous ABCC10 64 82918 7.71847E-4 41459 0 0.00111572
6-43415032-G-C p.Leu1169Leu synonymous ABCC10 1 82918 1.20601E-5 41459 0 8.24688E-6
6-43415037-C-T p.Ser1171Leu missense ABCC10 2 82930 2.41167E-5 41465 0 0.00100705
6-43415038-G-T p.Ser1171Ser synonymous ABCC10 1 82934 1.20578E-5 41467 0 3.1902E-5
6-43415038-G-A p.Ser1171Ser synonymous ABCC10 1 82934 1.20578E-5 41467 0 3.98711E-6
6-43415039-G-C p.Gly1172Arg missense ABCC10 9 82958 1.08489E-4 41479 0 5.03525E-4
6-43415039-G-A p.Gly1172Ser missense ABCC10 1 82958 1.20543E-5 41479 0 8.2462E-6
6-43415061-A-G p.Gln1179Arg missense ABCC10 1 83008 1.2047E-5 41504 0 NA
6-43415062-G-C p.Gln1179His missense ABCC10 4 82996 4.81951E-5 41498 0 1.64992E-5
6-43415076-T-G p.Leu1184Arg missense ABCC10 1 82954 1.20549E-5 41477 0 NA
6-43415080-G-A p.Val1185Val synonymous ABCC10 1 82942 1.20566E-5 41471 0 NA
6-43415084-G-A p.Val1187Ile missense ABCC10 2 82906 2.41237E-5 41453 0 1.65243E-5
6-43415086-C-T p.Val1187Val synonymous ABCC10 2 82874 2.4133E-5 41437 0 1.59705E-5
6-43415087-G-A p.Glu1188Lys missense ABCC10 1 82888 1.20645E-5 41444 0 4.1351E-5
6-43415090-C-T p.Arg1189Trp missense ABCC10 8 82866 9.65414E-5 41433 0 5.03525E-4
6-43415095-G-T p.Leu1190Leu synonymous ABCC10 1 82852 1.20697E-5 41426 0 8.27801E-6
6-43415113-C-A p.Asp1196Glu missense ABCC10 2 82500 2.42424E-5 41250 0 3.19061E-5
6-43415118-C-A p.Pro1198His missense ABCC10 1 82486 1.21233E-5 41243 0 1.67353E-5
6-43415118-C-T p.Pro1198Leu missense ABCC10 1 82486 1.21233E-5 41243 0 1.67353E-5
6-43415120-C-T p.Gln1199* stop_gained ABCC10 1 82458 1.21274E-5 41229 0 8.36666E-6
6-43415122-G-A p.Gln1199Gln synonymous ABCC10 1 82400 1.21359E-5 41200 0 8.36862E-6
6-43415128-C-T p.Pro1201Pro synonymous ABCC10 3 82372 3.64201E-5 41186 0 NA
6-43415138-C-G p.Pro1205Ala missense ABCC10 2 82326 2.42937E-5 41163 0 NA
6-43415145-A-G p.Gln1207Arg missense+splice_region ABCC10 7 82218 8.51395E-5 41109 0 4.83353E-5
6-43415146-G-A p.Gln1207Gln splice_region+synonymous ABCC10 4 82200 4.86618E-5 41100 0 3.18959E-5
6-43415149-G-A c.3621+3G>A splice_region ABCC10 1 82094 1.21812E-5 41047 0 6.37959E-5
6-43415418-C-G c.3622-4C>G splice_region ABCC10 1 81928 1.22058E-5 40964 0 8.04221E-6
6-43415429-C-T p.Thr1210Ile missense ABCC10 584 81816 0.00713797 40908 9 0.0139579
6-43415430-C-T p.Thr1210Thr synonymous ABCC10 6 81838 7.33156E-5 40919 0 3.33806E-5
6-43415431-G-A p.Gly1211Ser missense ABCC10 4 81784 4.89093E-5 40892 0 0.0020141
6-43415446-G-A p.Gly1216Arg missense ABCC10 1 81796 1.22255E-5 40898 0 6.25782E-4
6-43415446-G-T p.Gly1216Trp missense ABCC10 6 81796 7.33532E-5 40898 0 1.20048E-5
6-43415451-C-T p.Gly1217Gly synonymous ABCC10 2 81690 2.44828E-5 40845 0 1.15902E-4
6-43415452-G-A p.Val1218Met missense ABCC10 6 81794 7.3355E-5 40897 0 5.03525E-4
6-43415466-C-T p.Asp1222Asp synonymous ABCC10 1 82258 1.21569E-5 41129 0 3.18613E-5
6-43415467-G-A p.Val1223Met missense ABCC10 1 82308 1.21495E-5 41154 0 3.18961E-5
6-43415472-G-A p.Val1224Val synonymous ABCC10 1 82432 1.21312E-5 41216 0 3.18593E-5
6-43415477-C-T p.Ala1226Val missense ABCC10 3 82540 3.6346E-5 41270 0 7.96914E-6
6-43415478-G-A p.Ala1226Ala synonymous ABCC10 2 82580 2.42189E-5 41290 0 6.60197E-5
6-43415482-C-T p.Arg1228Trp missense ABCC10 27 82694 3.26505E-4 41347 0 4.12568E-4
6-43415483-G-A p.Arg1228Gln missense ABCC10 2 82732 2.41744E-5 41366 0 3.18593E-5
6-43415485-C-T p.Pro1229Ser missense ABCC10 4 82778 4.8322E-5 41389 0 NA
6-43415489-G-A p.Gly1230Glu missense ABCC10 1 82884 1.20651E-5 41442 0 NA
6-43415495-C-T p.Pro1232Leu missense ABCC10 1 82932 1.20581E-5 41466 0 3.18613E-5
6-43415496-G-A p.Pro1232Pro synonymous ABCC10 1 82950 1.20555E-5 41475 0 6.37186E-5
6-43415523-C-T p.Cys1241Cys synonymous ABCC10 3 83104 3.60993E-5 41552 0 4.9469E-5
6-43415524-G-A p.Val1242Met missense ABCC10 1 83106 1.20328E-5 41553 0 7.96559E-6
6-43415524-G-T p.Val1242Leu missense ABCC10 1 83106 1.20328E-5 41553 0 NA
6-43415539-A-T p.Lys1247* stop_gained ABCC10 1 83094 1.20346E-5 41547 0 8.24375E-6
6-43415549-T-C p.Ile1250Thr missense ABCC10 23 83036 2.76988E-4 41518 0 0.001875
6-43415550-C-T p.Ile1250Ile synonymous ABCC10 2 83030 2.40877E-5 41515 0 3.18898E-5
6-43415551-G-A p.Val1251Met missense ABCC10 4 83016 4.81835E-5 41508 0 1.59349E-5
6-43415557-C-T p.Arg1253Cys missense ABCC10 3 82928 3.6176E-5 41464 0 3.18898E-5
6-43415565-C-T p.Gly1255Gly synonymous ABCC10 4 82896 4.82532E-5 41448 0 NA
6-43415569-G-A p.Gly1257Ser missense ABCC10 1 82832 1.20726E-5 41416 0 6.37349E-5
6-43415570-G-T p.Gly1257Val missense ABCC10 2 82828 2.41464E-5 41414 0 3.9826E-6
6-43415583-G-A p.Leu1261Leu synonymous ABCC10 1 82658 1.2098E-5 41329 0 NA
6-43415604-G-A p.Leu1268Leu synonymous ABCC10 2 81990 2.43932E-5 40995 0 NA
6-43415607-A-G p.Leu1269Leu synonymous ABCC10 2 81904 2.44188E-5 40952 0 NA
6-43415609-A-G p.Glu1270Gly missense ABCC10 1 81774 1.22288E-5 40887 0 2.48431E-5
6-43415614-A-G p.Ser1272Gly missense ABCC10 1 81626 1.2251E-5 40813 0 1.59356E-5
6-43415615-G-T p.Ser1272Ile missense ABCC10 2 81596 2.4511E-5 40798 0 2.48748E-5
6-43415618-C-T p.Ser1273Leu missense ABCC10 3 81454 3.68306E-5 40727 0 NA
6-43415623-C-T p.Arg1275* stop_gained ABCC10 1 80996 1.23463E-5 40498 0 3.32287E-5
6-43415634-G-A p.Leu1278Leu synonymous ABCC10 3 80736 3.71581E-5 40368 0 NA
6-43415637-C-T p.Asp1279Asp synonymous ABCC10 8 80486 9.93962E-5 40243 0 6.25E-4
6-43415638-G-A p.Gly1280Ser missense ABCC10 3 80440 3.72949E-5 40220 0 8.37998E-6
6-43415640-C-T p.Gly1280Gly synonymous ABCC10 8 80188 9.97656E-5 40094 0 6.47306E-4
6-43415641-G-A p.Val1281Met missense ABCC10 6 80238 7.47775E-5 40119 0 4.79716E-5
6-43415740-A-G p.Ile4Val missense ABCC10 1 77572 1.28912E-5 38786 0 3.18552E-5
6-43415743-G-T p.Ala5Ser missense ABCC10 1 77360 1.29266E-5 38680 0 NA
6-43415768-C-A p.Thr13Lys missense ABCC10 1 74896 1.33518E-5 37448 0 NA
6-43415776-A-G p.Arg16Gly missense ABCC10 2 73554 2.71909E-5 36777 0 6.57938E-5
6-43415780-C-T p.Ala17Val missense ABCC10 1 72922 1.37133E-5 36461 0 2.42019E-5
6-43415808-G-A p.Arg26Arg synonymous ABCC10 1 68034 1.46985E-5 34017 0 NA
6-43415811-G-A p.Met27Ile missense ABCC10 2 67130 2.97929E-5 33565 0 NA
6-43415818-C-T p.Gln30* stop_gained ABCC10 1 64788 1.5435E-5 32394 0 7.21137E-6
6-43415827-C-T p.Arg33* stop_gained ABCC10 3 60888 4.92708E-5 30444 0 6.37755E-5
6-43415828-G-A p.Arg33Gln missense ABCC10 36 60230 5.97709E-4 30115 0 8.60805E-4
6-43415839-G-A p.Ala37Thr missense ABCC10 1 54490 1.8352E-5 27245 0 NA
6-43415843-A-G p.Gln38Arg missense+splice_region ABCC10 4 53478 7.47971E-5 26739 0 2.86935E-4
6-43415847-C-T c.114+3C>T splice_region ABCC10 2 51782 3.86235E-5 25891 0 1.50577E-5
6-43416613-C-G c.3876-6C>G splice_region ABCC10 1 83344 1.19985E-5 41672 0 8.54204E-6
6-43416615-C-T c.3876-4C>T splice_region ABCC10 1 83340 1.1999E-5 41670 0 1.59205E-4
6-43416621-C-T p.Ser1293Phe missense+splice_region ABCC10 1 83346 1.19982E-5 41673 0 1.68127E-5
6-43416629-G-T p.Ala1296Ser missense ABCC10 2 83346 2.39964E-5 41673 0 8.3185E-6
6-43416647-C-T p.Pro1302Ser missense ABCC10 2 83366 2.39906E-5 41683 0 NA
6-43416649-C-CT p.Leu1304fs frameshift ABCC10 1 83360 1.19962E-5 41680 0 NA
6-43416666-C-G p.Thr1308Ser missense ABCC10 8 83344 9.59877E-5 41672 1 7.95665E-5
6-43416668-G-A p.Val1309Ile missense ABCC10 1 83342 1.19988E-5 41671 0 1.64802E-5
6-43416671-C-T p.Arg1310Trp missense ABCC10 2 83340 2.39981E-5 41670 0 3.29582E-5
6-43416672-G-A p.Arg1310Gln missense ABCC10 9 83348 1.07981E-4 41674 0 6.36497E-5
6-43416690-AGG-A p.Gly1317fs frameshift ABCC10 8 83354 9.59762E-5 41677 0 3.29576E-5
6-43416693-G-T p.Gly1317Val missense ABCC10 2 83350 2.39952E-5 41675 0 1.19339E-5
6-43416697-A-G p.Leu1318Leu synonymous ABCC10 1 83360 1.19962E-5 41680 0 8.2394E-6
6-43416699-A-G p.His1319Arg missense ABCC10 1 83362 1.19959E-5 41681 0 NA
6-43416737-C-T p.His1332Tyr missense ABCC10 1 83336 1.19996E-5 41668 0 3.98241E-6
6-43416751-G-A p.Val1336Val synonymous ABCC10 1 83348 1.19979E-5 41674 0 1.59373E-5
6-43416762-T-C p.Met1340Thr missense+splice_region ABCC10 1 83350 1.19976E-5 41675 0 NA
6-43416763-GGGTGAGTGCTGGACCCTGACCTTAGAGCAAGAAGGGAGCAGGGATGGCCTGGGCCCTGCAACGAAGATGCTTTCCTTGCA-G p.Gly1341fs frameshift ABCC10 7 83346 8.39872E-5 41673 0 NA
6-43416764-G-A p.Gly1341Ser missense+splice_region ABCC10 3 83344 3.59954E-5 41672 0 3.18431E-5
6-43416765-G-A c.4021+1G>A splice_donor ABCC10 7 83346 8.39872E-5 41673 0 3.5878E-5
6-43416767-G-C c.4021+3G>C splice_region ABCC10 1 83346 1.19982E-5 41673 0 1.64992E-5
6-43416771-G-A c.4021+7G>A splice_region ABCC10 1 83344 1.19985E-5 41672 0 1.65008E-5
6-43416840-T-C c.4022-5T>C splice_region ABCC10 226 83308 0.00271282 41654 1 0.00253267
6-43416843-A-C c.4022-2A>C splice_acceptor ABCC10 1 83308 1.20036E-5 41654 0 NA
6-43416852-G-A p.Leu1343Leu synonymous ABCC10 1 83292 1.2006E-5 41646 0 NA
6-43416868-G-A p.Glu1349Lys missense ABCC10 1 83274 1.20085E-5 41637 0 1.64919E-5
6-43416870-G-A p.Glu1349Glu synonymous ABCC10 1 83268 1.20094E-5 41634 0 NA
6-43416872-G-C p.Gly1350Ala missense ABCC10 1 83270 1.20091E-5 41635 0 NA
6-43416877-C-T p.Arg1352Trp missense ABCC10 3 83228 3.60456E-5 41614 0 1.07179E-4
6-43416878-G-A p.Arg1352Gln missense ABCC10 3 83234 3.6043E-5 41617 0 6.37024E-5
6-43416878-G-T p.Arg1352Leu missense ABCC10 2 83234 2.40286E-5 41617 0 NA
6-43416881-G-A p.Ser1353Asn missense ABCC10 1 83226 1.20155E-5 41613 0 3.97747E-6
6-43416884-T-C p.Leu1354Ser missense ABCC10 1 83228 1.20152E-5 41614 0 4.94641E-5
6-43416892-G-C p.Gly1357Arg missense ABCC10 1 83234 1.20143E-5 41617 0 NA
6-43416925-C-T p.Leu1368Phe missense ABCC10 1 83064 1.20389E-5 41532 0 7.95716E-6
6-43416925-C-G p.Leu1368Val missense ABCC10 1 83064 1.20389E-5 41532 0 8.25641E-6
6-43417162-C-A p.Ile1374Ile splice_region+synonymous ABCC10 3 82756 3.62511E-5 41378 0 2.00271E-5
6-43417171-C-T p.Ile1377Ile synonymous ABCC10 1 82864 1.2068E-5 41432 0 8.35897E-6
6-43417172-G-A p.Asp1378Asn missense ABCC10 6 82848 7.24218E-5 41424 0 5.00559E-5
6-43417187-A-G p.Ser1383Gly missense ABCC10 1 82974 1.2052E-5 41487 0 NA
6-43417192-G-A p.Val1384Val synonymous ABCC10 10 83006 1.20473E-4 41503 0 6.37552E-5
6-43417193-G-T p.Asp1385Tyr missense ABCC10 2 83028 2.40883E-5 41514 0 3.98076E-6
6-43417199-A-G p.Lys1387Glu missense ABCC10 2 83030 2.40877E-5 41515 0 NA
6-43417202-A-ACAGACCAGCTGCTCCAG p.Ile1396fs frameshift ABCC10 1 83042 1.20421E-5 41521 0 NA
6-43417212-T-C p.Leu1391Pro missense ABCC10 2 83060 2.4079E-5 41530 0 NA
6-43417220-C-G p.Gln1394Glu missense ABCC10 1 83056 1.20401E-5 41528 0 1.5917E-5
6-43417226-A-AGTTTCTGACTACAGGGCTAGCACCTCCATGAAAGCCTGGGTATGAGACCTGAACATAACCCCAC p.Ile1396fs frameshift ABCC10 1 83102 1.20334E-5 41551 0 NA
6-43417235-C-T p.Arg1399Cys missense ABCC10 1 83082 1.20363E-5 41541 0 1.98973E-5
6-43417243-C-A p.Ala1401Ala synonymous ABCC10 4 83070 4.81522E-5 41535 0 3.18817E-5
6-43417249-GACAGTGCTGACC-G p.Thr1404_Thr1407del disruptive_inframe_deletion ABCC10 10 83068 1.20383E-4 41534 0 6.37592E-5
6-43417250-A-G p.Thr1404Ala missense ABCC10 2 83050 2.40819E-5 41525 0 7.96026E-6
6-43417251-C-T p.Thr1404Ile missense ABCC10 1 83062 1.20392E-5 41531 0 6.37511E-5
6-43417254-T-C p.Val1405Ala missense ABCC10 1 83034 1.20433E-5 41517 0 NA
6-43417262-A-G p.Ile1408Val missense ABCC10 1 82984 1.20505E-5 41492 0 4.02039E-6
6-43417270-T-C p.His1410His splice_region+synonymous ABCC10 2 82882 2.41307E-5 41441 0 8.36162E-6
6-43417276-T-G c.4232+4T>G splice_region ABCC10 1 82764 1.20825E-5 41382 0 NA
6-43417676-G-A p.Thr1414Thr synonymous ABCC10 1 82704 1.20913E-5 41352 0 4.13462E-5
6-43417682-G-A p.Leu1416Leu synonymous ABCC10 1 82802 1.2077E-5 41401 0 NA
6-43417687-C-T p.Ser1418Leu missense ABCC10 2 82814 2.41505E-5 41407 0 3.18593E-5
6-43417692-C-T p.Arg1420Trp missense ABCC10 2 82854 2.41388E-5 41427 0 3.50721E-4
6-43417693-G-A p.Arg1420Gln missense ABCC10 2 82844 2.41418E-5 41422 0 1.19808E-5
6-43417697-GC-G p.Leu1422fs frameshift ABCC10 1 82856 1.20691E-5 41428 0 NA
6-43417711-C-G p.Ala1426Gly missense ABCC10 3 82800 3.62319E-5 41400 0 1.19619E-5
6-43417711-C-T p.Ala1426Val missense ABCC10 2 82800 2.41546E-5 41400 0 3.18837E-5
6-43417712-G-C p.Ala1426Ala synonymous ABCC10 2 82782 2.41598E-5 41391 0 3.98699E-6
6-43417712-G-A p.Ala1426Ala synonymous ABCC10 6 82782 7.24795E-5 41391 0 6.37714E-5
6-43417721-G-A p.Val1429Val synonymous ABCC10 1 82630 1.21021E-5 41315 0 1.99244E-5
6-43417738-C-T p.Pro1435Leu